Eye-catching research

Genetic changes may increase the chances that children with the bacterial eye infection trachoma, will suffer from severe forms of the disease, which can lead to blindness.

Published in BMC Infectious Diseases, researchers at the London School of Hygiene & Tropical Medicine identified changes to specific molecules controlling gene activity in the early stages of infection.

Trachoma, which is widespread in 51 countries, is the cause of permanent blindness in 1.2 million people worldwide. Antibiotics can treat trachoma in its initial stages, but in areas where infections are common, long-term inflammation and scarring of the eyelid can occur, leading to blindness.

The research, supported by Fight for Sight and the Wellcome Trust, investigated why inflammation and scarring continue in some people but not others.

Comparing samples between healthy children and those with infection, researchers discovered that two specific molecules that control gene activity known as microRNAs – miR-155 and miR-184 – have a direct relationship with the degree of inflammation.

Dr Dolores M Conroy, Director of Research at Fight for Sight, said: “Inflammation is known to be a major risk factor for scarring trachoma and these results give us an important indication of why. One of the priorities for research identified by the Sight Loss and Vision Priority Setting Partnership was to find out whether severe ocular surface diseases in children can be better managed. Knowing who is at risk and how that risk can be reduced is a major step towards better management of this globally devastating condition.”

Even a worm will turn

Genes that protected Vikings from worm infestations have been linked to an inherited trait causing lung disease, according to new research at the Liverpool School of Tropical Medicine.

For the first time, Wellcome Trust-funded research can explain why deviants to the gene alpha-1-antitrypsin (A1AT) have been common in Scandinavia for the past 2000 years. A1AT protects the lungs and liver from protease enzymes produced in the immune system, but is also present in parasitic worms.

Archaeological investigations of latrine pits in Demark revealed that Viking populations suffered large-scale worm infestations. As a way to protect their vital organs from disease caused by worms, their genes created A1AT deviants that now causes lung disease in smokers.

These A1AT deviants bind an antibody called immunoglobulin E (IgE) that evolved to protect people from worms. By binding together, IgE cannot be broken down by proteases.

Professor Richard Pleass, senior author on the paper published in Scientific Reports, said: “Vikings would have eaten contaminated food and parasites would have migrated to various organs, including lungs and liver, where the proteases they released would cause disease.”

“These deviant forms of A1AT would have protected Viking populations, who neither smoked tobacco nor lived long lives, from worms. It is only in the last century that modern medicine has allowed human populations to be treated for disease causing worms. Consequently these deviant forms of A1AT, that once protected people from parasites, are now at liberty to cause emphysema and COPD”.

Cancers’ complexities

Credit: Anne Weston, LRI, CRUK. Wellcome Images

Complex and diverse breast cancers are more likely to result in patients dying, suggest researchers at The Institute of Cancer Research.

Scientists have developed a test which combines ecological methods to identify genetic diversity with a powerful cancer imaging technique that tells cancerous cells apart from normal cells in tumours. The Ecosystem Diversity Index is the first time that researchers have a test that combined ecological methods with a powerful cancer imaging technique to differentiate cancerous cells from normal ones in tumours. This is the first time a study has analysed cell types around a tumour at the same time as analysing their genetic information to predict a clinical outcome.

The research, partly funded by the Wellcome Trust and published in PloS Medicine, suggests that the test could be used in clinics to assess the severity of breast cancers, and help tailor individual treatment.

Researchers analysed over 1000 samples of untreated breast tumours from three hospitals. This included three different cell types that produce connective tissue – cancer cells, immune system lymphocytes and stromal cells.

If a patient’s tumour was over five centimetres in diameter and scored high on the Ecosystem Diversity Index, they had a low chance of surviving five years. But survival rates increased to 50% for tumours with low diversity scores.

Dr Rachael Natrajan, Team leader in the Breast Cancer Now Toby Robins Research Centre at The Institute of Cancer Research, London, said, “We have known for a while that genetic diversity between cancer cells in tumours is associated with more aggressive disease, and our new results also show that diversity of cells within the tumour microenvironment also contributes to aggressive breast cancer.”

In other news…

Credit: Ed Grace, CC-BY-NC-SA

Last week, the Wellcome Trust joined a group of 30 global health bodies calling for all research data gathered during the Zika virus outbreak, and future public health emergencies, to be made available as rapidly and openly as possible. If your organisation would like to sign the list of signatories please contact us.

Congratulations to The Secret Life of 4 Year Olds for winning the Best Popular Factual Programme at the Broadcast Awards 2016. The programme, supported by the Wellcome Trust, brought together scientists from the MRC Cognition and Brain Sciences Unit, Cambridge and the University of Bristol to monitor children’s interactions and development.

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